CASP3, caspase 3, 836

N. diseases: 819; N. variants: 26
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4647600
rs4647600 		4 184649745 5 prime UTR variant T/C;G snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4647600
rs4647600 		4 184649745 5 prime UTR variant T/C;G snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4647608
rs4647608 		4 184647083 intron variant C/T snv 1.7E-04
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4647614
rs4647614 		4 184646349 intron variant T/C snv 5.9E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4647641
rs4647641 		4 184640236 intron variant T/G snv 3.6E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4647641
rs4647641 		4 184640236 intron variant T/G snv 3.6E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4647665
rs4647665 		4 184634712 intron variant A/G snv 5.1E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4647667
rs4647667 		4 184634471 intron variant G/A snv 1.7E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1049216
rs1049216 		0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 0.667 3 2013 2018
dbSNP: rs1049216
rs1049216 		0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 0.667 3 2013 2018
dbSNP: rs1424266770
rs1424266770 		0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.030 1.000 3 2010 2014
dbSNP: rs1424266770
rs1424266770 		0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.020 1.000 2 2010 2014
dbSNP: rs1424266770
rs1424266770 		0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.020 1.000 2 2010 2014
dbSNP: rs1424266770
rs1424266770 		0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 2011 2014
dbSNP: rs1424266770
rs1424266770 		0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.020 1.000 2 2010 2014
dbSNP: rs1424266770
rs1424266770 		0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2011 2014
dbSNP: rs2705897
rs2705897 		0.925 0.080 4 184631944 splice region variant T/G snv 0.64 0.73
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2013 2018
dbSNP: rs2705897
rs2705897 		0.925 0.080 4 184631944 splice region variant T/G snv 0.64 0.73
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2013 2018
dbSNP: rs4647603
rs4647603 		0.925 0.080 4 184648576 5 prime UTR variant C/T snv 0.11
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2013 2018
dbSNP: rs4647603
rs4647603 		0.925 0.080 4 184648576 5 prime UTR variant C/T snv 0.11
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2013 2018
dbSNP: rs1049216
rs1049216 		0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2017 2017
dbSNP: rs1049216
rs1049216 		0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1049216
rs1049216 		0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2017 2017
dbSNP: rs1049216
rs1049216 		0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1049216
rs1049216 		0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2017 2017